Linked Data
ClinVar Variation Id:
2290935
ClinVar RCV Id:
RCV002859468
dbSNP Id:
rs768874880
ExAC:
1:152283901 C / G
gnomAD v2:
1-152283901-C-G
gnomAD v4:
1-152311425-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311425C>G , CM000663.2:g.152311425C>G | GRCh38 |
| NC_000001.10:g.152283901C>G , CM000663.1:g.152283901C>G | GRCh37 |
| NC_000001.9:g.150550525C>G | NCBI36 |
| NG_016190.1:g.18779G>C , LRG_1028:g.18779G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3461G>C MANE Select | ENSP00000357789.1:p.Arg1154Thr | |
| ENST00000368799.1:c.3461G>C | ENSP00000357789.1:p.Arg1154Thr | |
| NM_002016.1:c.3461G>C , LRG_1028t1:c.3461G>C | NP_002007.1:p.Arg1154Thr | |
| XM_011509329.1:c.3461G>C | XP_011507631.1:p.Arg1154Thr | |
| NM_002016.2:c.3461G>C MANE Select | NP_002007.1:p.Arg1154Thr |